Scientists from the Hebrew University of Jerusalem generated an atlas of the human genome using a technology of editing of genes of last generation and stem cells of human embryos, which sheds light on the roles played by our genes in health and disease. The scientists reported their findings in the journal Nature Cell Biology.
Embryonic stem cells are a unique resource, because they can become any adult cell in our bodies. Their versatile nature places them at the center of attention in the fields of regenerative medicine, disease modeling and drug discovery.
Parallel to the discovery of human embryonic stem cells, another milestone in biology was completed with the sequencing of the human genome and the identification of the complete set of genes responsible for our genetic identity.
Now, the new study by scientists at the Hebrew University provides a novel tool to map the function of all human genes using human embryonic stem cells.
The researchers analyzed virtually all human genes by generating more than 180,000 different mutations. To produce such a broad range of mutations, they combined a sophisticated gene-editing technology (CRISPR-Cas9 screening) with a new type of embryonic stem cell that was recently isolated by the same research group.
This new type of stem cells houses only one copy of the human genome, instead of two copies of the mother and father, facilitating the editing of genes thanks to the need to mutate a single copy for each gene.
The researchers showed that only 9 percent of all genes in the human genome are essential for the growth and survival of human embryonic stem cells, while 5 percent of them actually limit the growth of these cells. They could also analyze the role of the genes responsible for all hereditary disorders in early human growth and development. In addition, they showed how the genes that cause cancer could affect the growth of the human embryo.
“This atlas gene allows a new functional vision on how we study the human genome and provides a tool that will change the way we analyze and treat cancer and genetic disorders,” said Professor Nissim Benvenisty, director of the Azrieli Center for Stem Cells. Genetic Research at the Hebrew University of Jerusalem.